Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.I290V
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SCN2A

NM_001040142.2:p.I290V

Associated Papers

VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies.

Belmadani M et al.

Autism Research : Official Journal of the International Society for Autism Research, 2019

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM7_ESM.xlsx › all_validated_DNMs
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